UniProt | Protein Name |
---|---|
P38606 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proton motive force-driven ATP synthesis | ||
Golgi lumen acidification |
|
|
synaptic vesicle lumen acidification | ||
regulation of macroautophagy |
|
|
intracellular pH reduction |
|
GO Term | Evidence Code | PMID |
---|---|---|
extrinsic component of synaptic vesicle membrane | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
clathrin-coated vesicle membrane | ||
secretory granule |
GO Term | Evidence Code | PMID |
---|---|---|
proton-transporting ATPase activity, rotational mechanism | ||
proton-transporting ATP synthase activity, rotational mechanism | ||
ATP binding | ||
protein binding | ||
ATP hydrolysis activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060320 | inguinal hernia | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
DOID:0060857 | septooptic dysplasia | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA |
HPO ID | HPO Term |
---|---|
HP:0002751 | Kyphoscoliosis |
HP:0002761 | Generalized joint hypermobility |
HP:0002827 | Hip dislocation |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
HP:0003196 | Short nose |
HP:0003199 | Decreased muscle mass |
HP:0003429 | CNS hypomyelination |
HP:0003593 | Infantile onset |
HP:0003758 | Reduced subcutaneous adipose tissue |
HP:0004305 | Involuntary movements |
Disease ID | Disease Name |
---|---|
OMIM:618012 |
|
ORPHA:357074 |
|
ORPHA:442835 |
|
OMIM:617403 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102448205 | PELSI14402 | ||
100554836 | ANOCA13723 | ||
107097936 | CYPVA23457 | ||
107104603 | CYPVA30953 | ||
103678812 | URSMA20064 | ||
114046787 | VOMUR11083 | ||
113880466 | BOBOX29790 | ||
102542005 | VICPA00263 | ||
100958623 | OTOGA05370 | ||
112142898 | ORYME12285 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024